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Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibit increased size, as well as dysharmonic skeletal maturation.
Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. [1]
Hypotonia is a state of low muscle tone [1] (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders. [3] It has a relatively good outcome and follows a stable course. [4] While the exact genetics is unclear, there is an association with mutations in the genes TPM3, ACTA1 and SELENON. [5]
GeneDx Holdings (NASDAQ:WGS) stock is trading higher on Tuesday. The genetic testing company reported a third-quarter EPS loss of $(0.31), compared to $(1.64) reported a year ago, beating the ...
It consists of a heterogeneous group of disorders of cerebellar maldevelopment presenting as early-onset non–progressive congenital ataxia, hypotonia and motor learning disability. Various causes have been identified, including hereditary, metabolic, toxic and viral agents. It was first reported by French neurologist Octave Crouzon in 1929. [1]
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